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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:HELLP syndrome
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Accession:DOID:13133 term browser browse the term
Definition:A severe pre-eclampsia characterized by hemolysis, elevated liver enzyme and low platelet count. (DO)
Synonyms:exact_synonym: hemolysis, elevated liver enzymes, lowered platelets
 primary_id: MESH:D017359
 xref: EFO:0007297;   GARD:8528;   ICD10CM:O14.2;   NCI:C84750
For additional species annotation, visit the Alliance of Genome Resources.


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HELLP syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 ISO protein:decreased activity:plasma (human) RGD PMID:12969811 RGD:10449045 NCBI chr 1:273,022,014...273,066,916
Ensembl chr 1:273,024,009...273,056,039 		JBrowse link
G AHSP alpha hemoglobin stabilizing protein ISO mRNA:decreased expression:placenta (human) RGD PMID:18347943 RGD:329956422 NCBI chr 3:17,059,340...17,060,343
Ensembl chr 3:17,059,333...17,065,749 		JBrowse link
G CD40LG CD40 ligand ISO protein:increased expression:blood platelet (human) RGD PMID:23241952 RGD:11522719 NCBI chr  X:111,778,666...111,788,901
Ensembl chr  X:111,778,493...111,789,709 		JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 ISO RGD PMID:9158311 RGD:1580990 NCBI chr12:22,591,621...22,621,384
Ensembl chr12:22,590,725...22,621,351 		JBrowse link
G FAS Fas cell surface death receptor susceptibility ISO DNA:SNP:promoter:-670A>G(rs1800682)(human)
protein,mRNA:altered expression:placenta, liver:		 RGD PMID:28501275 PMID:30066360 RGD:14700669 RGD:14700673 NCBI chr14:100,927,305...100,954,781
Ensembl chr14:100,927,089...100,956,716 		JBrowse link
G FASLG Fas ligand susceptibility ISO DNA:SNP:intron:124A>G(rs5030772)(human)
protein:altered expression:blood, placenta, liver:		 RGD PMID:28501275 PMID:30066360 RGD:14700669 RGD:14700673 NCBI chr 9:115,068,314...115,075,147
Ensembl chr 9:115,068,090...115,076,464 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    syndrome 9894
      HELLP syndrome 6
Path 2
Term Annotations click to browse term
  disease 17412
    disease of anatomical entity 14873
      cardiovascular system disease 4328
        vascular disease 3053
          artery disease 2018
            hypertension 1013
              Pregnancy-Induced Hypertension 156
                pre-eclampsia 155
                  severe pre-eclampsia 15
                    HELLP syndrome 6
paths to the root